ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002

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